|
gptkbp:instanceOf
|
gptkb:neurodegenerative_disease
|
|
gptkbp:affects
|
gptkb:basal_ganglia
gptkb:cerebral_cortex
central nervous system
|
|
gptkbp:alsoKnownAs
|
gptkb:Huntington_disease
HD
|
|
gptkbp:associatedWith
|
CAG trinucleotide repeat expansion
|
|
gptkbp:averageAgeOfOnset
|
30-50 years
|
|
gptkbp:averageSpeed
|
15-20 years after onset
|
|
gptkbp:casualties
|
yes
|
|
gptkbp:category
|
gptkb:genetic_disorder
gptkb:neurodegenerative_disease
gptkb:movement_disorder
gptkb:rare_disease
|
|
gptkbp:causedBy
|
mutation in HTT gene
|
|
gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:George_Huntington
1872
|
|
gptkbp:geneticTestAvailable
|
yes
|
|
gptkbp:ICD-10_code
|
G10
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:involvesProtein
|
huntingtin
|
|
gptkbp:MeSH_ID
|
D006816
|
|
gptkbp:namedAfter
|
gptkb:George_Huntington
|
|
gptkbp:OMIM
|
143100
|
|
gptkbp:onset
|
adulthood
rarely juvenile
|
|
gptkbp:prevalence
|
3-7 per 100,000 people of European descent
|
|
gptkbp:progression
|
progressive
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:dementia
gptkb:depression
cognitive decline
memory loss
anxiety
difficulty swallowing
irritability
chorea
impaired coordination
involuntary movements
obsessive-compulsive behaviors
personality changes
psychiatric symptoms
speech difficulties
|
|
gptkbp:treatment
|
symptomatic management
no cure
|
|
gptkbp:bfsParent
|
gptkb:Vico_Therapeutics
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Huntington’s disease
|